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rs80359648

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;ACAA) 6 BRCA2 variant considered pathogenic for breast cancer
(AAAC;AAAC) 0 common in clinvar
(ACAA;ACAA) 0 common in clinvar


Make rs80359648(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32355232
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359648
ebirs80359648
HLIrs80359648
Exacrs80359648
Varsomers80359648
Maprs80359648
PheGenIrs80359648
hapmaprs80359648
1000 genomesrs80359648
hgdprs80359648
ensemblrs80359648
gopubmedrs80359648
geneviewrs80359648
scholarrs80359648
googlers80359648
pharmgkbrs80359648
gwascentralrs80359648
openSNPrs80359648
23andMers80359648
23andMe allrs80359648
SNP Nexus

SNPshotrs80359648
SNPdbers80359648
MSV3drs80359648
GWAS Ctlgrs80359648
Max Magnitude6
rs80359648, also known as 7607del4, c.7379_7382delACAA and p.Asn2460_Asn2461?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359648(;)
Alt rs80359648(;)
Reference rs80359648(AAAC;AAAC)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32929369_32929372delACAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031673.4, RCV000045194.2,